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#1 of 18 Old 01-09-2009, 04:17 PM - Thread Starter
 
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We got my little guy's genetic tests back today. He was referred to a neurologist for a seizure.

He has

"at least a 3mb at bands 16p13.11p12.3 in the short arm of one chromosone 16"


What does this mean? He has several developmental delays and was given a PDD Dx by the neuro in November.
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#2 of 18 Old 01-09-2009, 04:24 PM
 
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I don't know what it means, though I know that some of the very smart folks who frequent this board will be around soon to share their knowledge and resources with you. I didn't want to read and not respond.

Here's some more of these: I hope that you soon have some helpful information!

computergeek2.gif

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#3 of 18 Old 01-09-2009, 06:50 PM
 
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http://www.chromodisorder.org/CDO/

Go here, click on "general info" at the top, then "intro to chromosomes". It explains very well what all those numbers mean.

What has me confused, though, from reading your quote is it doesn't say if he has a deletion or a duplication?? Or maybe a ring? Are you sure you didn't leave a word out?

My son, for example, has 22q11.2 Deletion, which means a small piece missing from his 22nd chromosome, q arm (the long arm), location 11.2 (all the locations are numbered) SO he's missing all the genetic material that is supposed to be at that location. Hence his syndrome, also called Velocardiofacial Syndrome, or DiGeorge Syndrome. The genetics community is attempting to change all references to syndromes to the numerical description rather than a name because names can be misleading (for example, my son doesn't have any significant cardiac issues, only very minor ones that would not have been found if not for a very thorough cardiac workup after his diagnosis at 11 months old)

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#4 of 18 Old 01-09-2009, 06:52 PM - Thread Starter
 
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It says
A duplication of at least 3mb at bands 16p13.11p12.3 in the short arm of one chromosone 16

So he has a duplication.. I'll check that link, I didn't even see that to look.. I feel like I've been hit by a truck
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#5 of 18 Old 01-09-2009, 07:00 PM
 
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Try not to freak out too much...while it's very possible that this is the root cause of all his issues (which for us was comforting to know finally what was really going on) it's also possible that he has a benign genetic anomaly. I haven't researched his particular duplication, but now that genetic testing is getting more sensitive, they're discovering anomalies in otherwise perfectly healthy people. So it appears that some deletions/duplications/etc lead to major problems, while other lead to only minor, and still others apparently mean nothing.

In that same tab on the main page, there's a list of registered disorders...check there to see if his specific duplication is listed.



One step at a time...

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#6 of 18 Old 01-09-2009, 07:03 PM
 
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http://www.genetics.emory.edu/ask/topic.php?topic_id=20

A quick google search, and I found at least one instance of someone else who has a child with this duplication. I didn't read any of the specifics...wanted to pass the link to you right away.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#7 of 18 Old 01-09-2009, 07:06 PM
 
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http://eurheartj.oxfordjournals.org/...2778/EHL560TB3

And here's a link that lists associated anomalies...scroll down until you find his number (which matches exactly).

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#8 of 18 Old 01-09-2009, 08:35 PM - Thread Starter
 
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Thank you. His duplication seems to be not listed on the chromosone site..
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#9 of 18 Old 01-09-2009, 08:36 PM - Thread Starter
 
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Quote:
Originally Posted by 2boyzmama View Post
http://eurheartj.oxfordjournals.org/...2778/EHL560TB3

And here's a link that lists associated anomalies...scroll down until you find his number (which matches exactly).
Thank you
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#10 of 18 Old 01-09-2009, 08:48 PM
 
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My daughter has a duplication of chromosome 3 (and a tiny deletion on 18). I encourage you to join the CDO, they have a support group by email and can help you find the small amount of information that is out there. You may even find another child with something similar, even though most of us are told our kids are the only one

I've found it very helpful to have a rare chromosome disorder diagnosis, because it opens doors pretty quickly (to therapies, services, etc.) Also, because there aren't tons of case studies there is no doom and gloom prognosis that can be proven true; our kids will write their own book.

DD1 7/13/05 DD2 9/20/10
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#11 of 18 Old 01-09-2009, 10:33 PM - Thread Starter
 
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Quote:
Originally Posted by bri276 View Post
most of us are told our kids are the only one
So these are rare then? The neurologist said that fragile X was a common issue for children with ASD, but DS does not have fragile X, that test was normal, as was the FISH test..

Perhaps, if it's rare.. my other children don't have it....*trying to be hopeful*
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#12 of 18 Old 01-09-2009, 10:36 PM - Thread Starter
 
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Quote:
Originally Posted by 2boyzmama View Post
http://eurheartj.oxfordjournals.org/...2778/EHL560TB3

And here's a link that lists associated anomalies...scroll down until you find his number (which matches exactly).
Yes, his number was there.. what does

Cardiac Defect ASD mean?

What does Associated Abnormalities
Coloboma, renal agenesis, choanal atresia, MRCHD7-

mean? I assume those are disease names??

Maybe I should stop searching google tonight..
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#13 of 18 Old 01-09-2009, 10:52 PM
 
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Quote:
Originally Posted by chantald View Post
Yes, his number was there.. what does

Cardiac Defect ASD mean?

What does Associated Abnormalities
Coloboma, renal agenesis, choanal atresia, MRCHD7-

mean? I assume those are disease names??

Maybe I should stop searching google tonight..
I'm not sure about all of them, but renal agenesis means your son is a VERY lucky boy. That means the kidneys don't grow. His obviously did, though - without kidneys, babies can't make amniotic fluid. Without amniotic fluid, their lungs don't develop properly. They usually die shortly before/after birth.
And ASD usually means Autism Spectrum Disorder. Cardiac defect is heart defects. No clue about the others.
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#14 of 18 Old 01-09-2009, 10:53 PM
 
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Originally Posted by ShadowLark View Post
I'm not sure about all of them, but renal agenesis means your son is a VERY lucky boy. That means the kidneys don't grow. His obviously did, though - without kidneys, babies can't make amniotic fluid. Without amniotic fluid, their lungs don't develop properly. They usually die shortly before/after birth.
And ASD usually means Autism Spectrum Disorder. Cardiac defect is heart defects. No clue about the others.
Wait a sec - if the ASD is the cardiac defect, then it's probably Atrial Septal defect - a hole in the heart. There are TONS of heart mommas on here, they can tell you exactly what it means.
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#15 of 18 Old 01-09-2009, 10:59 PM - Thread Starter
 
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Ok, ASD as the Atrial Septal Defect makes more sense than Autism Spectrum Disorder listed under cardiac defect.. I could not understand that..
Now, I know he has both kidneys as I had ultrasounds during pregnancy and he checked out ok..he was full term, no problems. I looked at the other listed disorders and I am farily sure he has none of them. He has had a recent CAT scan (due to a fall, which triggered this whole neurologist visit and thus the testing) and they didn't say anything about his nose being sealed or not developed.
He's had an EEG and that was normal..

So.. I'll need to explore the heart thing, as that can go undetected and should be checked out.. Did they used to call hose Murmurs? My sister had one.. I remember going to the hospital a few times a year so she could have tests as a child..it closed on it's own eventually

wow.. just wow.. that's all I can come up with..I go from feeling like "well.. nothing's really changed.." to wanting to cry
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#16 of 18 Old 01-09-2009, 11:18 PM
 
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Yeah you'll need to see a few specialists but the best way to look at it is healthy until proven otherwise; unless there are already symptoms you are concerned about.

I could show you lists of features of 3p duplication and 18q- my DD is supposed to have and she doesn't have 99% of them. Usually, in the past, only the most severe cases had a chromosome analysis; now they do them much more often, but no one seems to be updated any type of database for rare chromosome disorders. I know no one has done a case report on my kid! So yeah- stay away from google for now, you have enough on your plate and it's much easier to look at those very scary descriptions after you've already had your child checked and know for a fact they're ok.

Quote:
So these are rare then? The neurologist said that fragile X was a common issue for children with ASD, but DS does not have fragile X, that test was normal, as was the FISH test..

Perhaps, if it's rare.. my other children don't have it....*trying to be hopeful*
Fragile X is relatively common compared to a partial duplication of chromosome 16, yes.

Oh, I found this too:

http://www.trisomy16.org/html/whatare.html

As far as whether your other kids can have it- if they have no dev. delays, and no birth defects/health problems, it's very unlikely- did they analyse your and your DH's chromosomes? unless one of you has what's called a balanced chromosome translocation (which I do), there's no reason your other kids would have this.

Sounds good though- normal eeg, normal kidneys, no one who has listened to his heart has picked anything up that didn't sound right, but sure a visit to the cardiologist can't hurt...he IS the same child he always was and actually I think you are dealing with this extremely well for how little time you've had to let it sink in.

DD1 7/13/05 DD2 9/20/10
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#17 of 18 Old 01-09-2009, 11:28 PM - Thread Starter
 
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Well, it's only been about 10 1/2 hours since we found this out..no one else in the family has been screened.. I need to find a genetic dr..I do hope they usually take insurance as I am sure these tests cost lots of $$.

My ODS has PDD with adhd traits, SPD, anxiety.. he doesnt' fit neatly into any one diagnostic category.. he is a bright, funny, loving child who struggles socially, with anger, etc..
My middle child seems fairly NT..

oiy
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#18 of 18 Old 05-05-2014, 07:22 PM
 
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Hello chantald,

 

I came across your post today. I know you posted this a very long time ago, but I still thought I would respond. 

I am raising my grandson who has a duplication at 16p13.11p12.3 also. His is only a 2 MB duplication, but it is in the exact same area. About a year ago, I came across a Facebook online support group for this duplication. You may have found the group also by now. This group has been very helpful to me. If you see this post, and would like to contact me, you may send me an email at: diamondnthemaking@yahoo.com.  Where it says "email subject," I suggest that you type "16p mother" so I don't mistake your email for spam. I hope everything is going well for you and your family.

 

mammaw

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